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Gaucher disease type 2

Acute neuronopathic Gaucher's disease
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Gaucher disease type 2" returned 3 free, full-text review articles. First few results:
The clinical management of Type 2 Gaucher disease.
Last Updated: Nov 13, 2018

Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the ...

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Last Updated: Oct 08, 2019

Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the ...

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Last Updated: Oct 08, 2019

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Gaucher disease type 2" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Gaucher disease type 2" returned 21 free, full-text research articles. First few results:
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.
Last Updated: Nov 12, 2019

Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) and poor, intermediate or extensive CYP2D6-metabolizer phenotypes (>90% of patients). We report the final results of a Phase 2 trial and extension (NCT00358150) in previously untreated adult GD1 patients ...

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Last Updated: Dec 11, 2018

Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 ...

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
Last Updated: Oct 08, 2019

Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, ...

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21 Free Research Articles 58 Research Articles